Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

Vincenzo La Bella, Rossella Spataro, Jessica Mandrioli, Stefania Battistini, Bryan J. Traynor, Mario Sabatelli, Gabriella Restagno, Andrea Calvo, Adriano Chiò, Fabrizio Salvi, Gabriele Mora, Maria Rosaria Monsurrò, Jennifer Schymick, Irene Ossola, Maura Brunetti

Risultato della ricerca: Article

99 Citazioni (Scopus)

Abstract

Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
Lingua originaleEnglish
pagine (da-a)1272-1275
Numero di pagine4
RivistaNeurobiology of Aging
Volume30
Stato di pubblicazionePublished - 2009

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Liposarcoma
Missense Mutation
Sarcoma
Mutation
Proline
Upper Extremity
Leucine
Serine
Genes
Arginine
Exons
Chromosomes
Phenotype
Amyotrophic lateral sclerosis 1
RNA Recognition Motif

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Geriatrics and Gerontology
  • Developmental Biology
  • Clinical Neurology
  • Ageing

Cita questo

La Bella, V., Spataro, R., Mandrioli, J., Battistini, S., Traynor, B. J., Sabatelli, M., ... Brunetti, M. (2009). Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiology of Aging, 30, 1272-1275.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. / La Bella, Vincenzo; Spataro, Rossella; Mandrioli, Jessica; Battistini, Stefania; Traynor, Bryan J.; Sabatelli, Mario; Restagno, Gabriella; Calvo, Andrea; Chiò, Adriano; Salvi, Fabrizio; Mora, Gabriele; Monsurrò, Maria Rosaria; Schymick, Jennifer; Ossola, Irene; Brunetti, Maura.

In: Neurobiology of Aging, Vol. 30, 2009, pag. 1272-1275.

Risultato della ricerca: Article

La Bella, V, Spataro, R, Mandrioli, J, Battistini, S, Traynor, BJ, Sabatelli, M, Restagno, G, Calvo, A, Chiò, A, Salvi, F, Mora, G, Monsurrò, MR, Schymick, J, Ossola, I & Brunetti, M 2009, 'Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation', Neurobiology of Aging, vol. 30, pagg. 1272-1275.
La Bella V, Spataro R, Mandrioli J, Battistini S, Traynor BJ, Sabatelli M e altri. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiology of Aging. 2009;30:1272-1275.
La Bella, Vincenzo ; Spataro, Rossella ; Mandrioli, Jessica ; Battistini, Stefania ; Traynor, Bryan J. ; Sabatelli, Mario ; Restagno, Gabriella ; Calvo, Andrea ; Chiò, Adriano ; Salvi, Fabrizio ; Mora, Gabriele ; Monsurrò, Maria Rosaria ; Schymick, Jennifer ; Ossola, Irene ; Brunetti, Maura. / Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. In: Neurobiology of Aging. 2009 ; Vol. 30. pagg. 1272-1275.
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title = "Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation",
abstract = "Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8{\%} of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.",
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T1 - Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

AU - La Bella, Vincenzo

AU - Spataro, Rossella

AU - Mandrioli, Jessica

AU - Battistini, Stefania

AU - Traynor, Bryan J.

AU - Sabatelli, Mario

AU - Restagno, Gabriella

AU - Calvo, Andrea

AU - Chiò, Adriano

AU - Salvi, Fabrizio

AU - Mora, Gabriele

AU - Monsurrò, Maria Rosaria

AU - Schymick, Jennifer

AU - Ossola, Irene

AU - Brunetti, Maura

PY - 2009

Y1 - 2009

N2 - Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.

AB - Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.

KW - SLA - FUS mutation - genetics

UR - http://hdl.handle.net/10447/50609

M3 - Article

VL - 30

SP - 1272

EP - 1275

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -